Global Variome shared LOVD

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Phenotype #0000301949 Individual ID 00409834 Associated disease NEDVIBA Diagnosis/Initial - Diagnosis/Definite neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) Phenotype details Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms hypertonia; electroencephalogram: abnormal (verbal disclosure); brain magnetic resonance: ventricular dilatation predominantly involving the occipital and temporal horns of the lateral ventricles with prominence of the subarachnoid space raising the possibility of underlying atrophy and a migrational anomaly; visual abnormalities: optic atrophy; other abnormalities: failure to thrive, gastroesophageal reflux disease, g-tube, hearing loss, laryngotracheomalacia respiratory distress Inheritance Isolated (sporadic) Age/Examination <1y (before 1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-11 15:22:31 +02:00 (CEST) Date last edited N/A

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